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Disease Profile

Rahman syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

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ICD-10

#N/A

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Summary

Rahman syndrome is a genetic syndrome that includes mild to severe intellectual disability and an increase in height, weight, or head size (overgrowth). The overgrowth is more apparent in infancy and may lessen with time. Other symptoms may include curved fingers, eyes that may not line up in the same direction (strabismus), and facial features such as full cheeks and an increase in the distance between the eyes. The syndrome is caused by changes (mutations) in the HIST1H1E gene. The protein made from the HISTH1E gene helps control which genetic information is turned on (expressed) at any given time. Only one copy of the HIST1H1E gene needs to have a disease-causing genetic change to have Rahman syndrome, which is consistent with an autosomal dominant condition. However, most of the reported cases of Rahman syndrome have not been inherited from the parents, but have been caused by a genetic change that happens by mistake during the making of the egg or sperm (de novo). Rahman syndrome may be suspected by symptoms, but the diagnosis is confirmed by genetic testing. Rahman syndrome is one of a group of disorders that have been associated with overgrowth and intellectual disability.[1][2]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Accelerated skeletal maturation
Advanced bone age
Early bone maturation

[ more ]

0005616
Amblyopia
Lazy eye
Wandering eye

[ more ]

0000646
Astigmatism
Abnormal curving of the cornea or lens of the eye
0000483
Autosomal dominant inheritance
0000006
Camptodactyly
Permanent flexion of the finger or toe
0012385
Full cheeks
Apple cheeks
Big cheeks
Increased size of cheeks
Large cheeks

[ more ]

0000293
Global developmental delay
0001263
Hypertonia
0001276
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Kyphoscoliosis
0002751
Macrocephaly
Increased size of skull
Large head
Large head circumference

[ more ]

0000256
Neonatal hypotonia
Low muscle tone, in neonatal onset
0001319
Nevus
Mole
0003764
Strabismus
Cross-eyed
Squint
Squint eyes

[ more ]

0000486
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot

[ more ]

0001762
Telecanthus
Corners of eye widely separated
0000506

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Providing General Support

    Learn more

    These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

    In-Depth Information

    • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 

      References

      1. Tatton-Brown, K., Loveday, C., Yost, S., et al.. Mutations in epigenetic regulation genes are a major cause of overgrowth with intellectual disability. American Journal of Human Genetics. 2017; 100:725-36. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5420355/.
      2. Kniffin, C. Rahman Syndrome; RMNS. Online Mendelian Inheritance in Man. June 19, 2017; https://www.omim.org/entry/617537?search=rahman&highlight=rahman.